Article
Pediatrics
Subin Jang, Allison Taber, Michael G. Bateman, Marie E. Steiner, Rebecca K. Ameduri, Massimo Griselli
Summary: Two cases of 1p36 deletion syndrome with left ventricular non-compaction cardiomyopathy underwent heart transplantation with excellent outcomes, demonstrating potential therapeutic options and favorable outcomes for non-compaction in this syndrome.
FRONTIERS IN PEDIATRICS
(2021)
Article
Cell Biology
Holly C. Cappelli, Brianna D. Guarino, Anantha K. Kanugula, Ravi K. Adapala, Vidushani Perera, Matthew A. Smith, Sailaja Paruchuri, Charles K. Thodeti
Summary: TRPV4 channels regulate endothelial cell functions in the retina, with their deletion leading to increased pathological neovascularization. This suggests that TRPV4 could be a potential target for therapies against neovascular ocular diseases.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Juan ManuelMunoz Moreno, Carlos Holguin Palacios, Carlos Lobato Jeri, Sebastian Reyes Villanes, Wilson Peralta Ramos, Miguel Reyes Rocha
Summary: Non-compaction cardiomyopathy (NCCM) is often associated with neuromuscular disorders, but its association with other neurological diseases requires further investigation. This case report presents a 46-year-old woman with a history of multiple sclerosis who developed heart failure and was diagnosed with non-compaction cardiomyopathy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Medicine, General & Internal
Vincenza Gragnaniello, Caterina Rizzardi, Anna Commone, Daniela Gueraldi, Evelina Maines, Leonardo Salviati, Giovanni Di Salvo, Alberto B. Burlina
Summary: For the first time, this report describes a case of infantile Pompe disease in which hypertrophic cardiomyopathy evolved into non-compaction myocardium after treatment. The patient was initially treated with standard enzyme replacement therapy and immunomodulation cycles, but the hypertrophic cardiomyopathy did not resolve. After switching to a new combination therapy, the cardiac hypertrophy resolved but transformed into non-compaction myocardium.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Computer Science, Artificial Intelligence
Axel Bartoli, Joris Fournel, Zakarya Bentatou, Gilbert Habib, Alain Lalande, Monique Bernard, Loic Boussel, Francois Pontana, Jean-Nicolas Dacher, Badih Ghattas, Alexis Jacquier
Summary: The study developed and evaluated a complete deep learning pipeline for the fully automated end-diastolic left ventricle cardiac MRI segmentation, including trabeculations and automatic quality control. The automated method achieved high segmentation accuracy and showed significant correlation with manual segmentation. The automated segmentation technology holds promise for potential applications in cardiac MRI image processing.
RADIOLOGY-ARTIFICIAL INTELLIGENCE
(2021)
Article
Biology
Hiroaki Kawano, Koichi Kawamura, Mitsuaki Ishijima, Kuniko Abe, Tomayoshi Hayashi, Masamichi Eguchi, Kiyonori Miura, Koji Maemura
Summary: The etiology of peripartum cardiomyopathy (PPCM) is varied and related to myocarditis and myocardial overload due to hypertension, as revealed by endomyocardial biopsy.
MEDICAL MOLECULAR MORPHOLOGY
(2023)
Article
Genetics & Heredity
Karin Writzl, Blaz Mavcic, Ales Maver, Alenka Hodzic, Borut Peterlin
Summary: The gene NONO plays a role in transcriptional regulation, RNA synthesis, and DNA repair. Variants in NONO have been linked to a syndrome characterized by intellectual disability, developmental delay, and various physical abnormalities. We report a case of a 17-year-old boy with multiple clinical features associated with NONO-X-linked intellectual disability syndrome, including congenital heart defect, left ventricular non-compaction cardiomyopathy, and recurrent fractures.
FRONTIERS IN GENETICS
(2023)
Review
Cardiac & Cardiovascular Systems
A. Korotkikh, Yulia Vladimirovna Vakhnenko, Tatyana Zabolotskikh, Anton Nikolaevich Kazantsev, Zinat Shavkatovich Annaev
Summary: Active research on noncompaction cardiomyopathy (NCM) has been conducted for over 30 years, accumulating a significant amount of information. However, many issues regarding classification, diagnostic criteria, and treatment remain unresolved. NCM patients face a high risk of adverse cardiovascular events and require timely and aggressive therapy. This review aims to analyze current perspectives on NCM and propose solutions to the controversial problems, based on extensive analysis of various scientific databases.
CURRENT PROBLEMS IN CARDIOLOGY
(2023)
Article
Physiology
Katherine Leyba, Nitchawat Paiyabhroma, John P. Salvas, Frederick W. Damen, Alicia Janvier, Emma Zub, Corinne Bernis, Richard Rouland, Christophe J. Dubois, Jerome Badaut, Sylvain Richard, Nicola Marchi, Craig J. Goergen, Pierre Sicard
Summary: Retrospective studies have shown that mild traumatic brain injury (mTBI) in pediatric patients may increase the risk of cardiac events, but the precise functional and temporal dynamics and associations between heart and brain pathophysiological trajectories are not well understood. In this study, a single impact was performed on the left somatosensory cortical area of juvenile mice, and various imaging techniques were used to measure the changes in brain and heart function over time. The results showed that mTBI caused a transient decrease in brain oxygen saturation and long-term cardiac dysfunction, which was correlated with behavioral changes. These imaging biomarkers could potentially be used to improve the management of pediatric mTBI.
Review
Cardiac & Cardiovascular Systems
Antonio M. A. Miranda, Vaibhao Janbandhu, Henrike Maatz, Kazumasa Kanemaru, James Cranley, Sarah A. Teichmann, Norbert Huebner, Michael D. Schneider, Richard P. Harvey, Michela Noseda
Summary: Cardiovascular disease is the leading cause of death globally. Understanding its mechanisms through advanced single-cell and single-nucleus transcriptomics studies is crucial for improving therapeutic strategies and patient risk assessment. This review provides an overview of the challenges and inferences in experimental design, as well as novel findings and applications in cardiac cell types and states. It also discusses the need for standardization and the translational and clinical implications of these technologies in diagnosing and treating heart disease.
NATURE REVIEWS CARDIOLOGY
(2023)
Article
Pharmacology & Pharmacy
Gabriel Silva Marques Borges, Pierre Sicard, Cristina de Mello Gomides Loures, Fernanda Gontijo Cristina Evangelista, Camila Campos Sales, Adriano de Paula Sabino, Christian Fernandes, Lucas Antonio Miranda Ferreira, Sylvain Richard
Summary: All-trans retinoic acid and arsenic trioxide are effective treatments for acute promyelocytic leukemia, but they have certain drawbacks such as patient relapse and cardiotoxicity. In this study, a self-nanoemulsifying drug delivery system enriched with tocotrienols was developed to enhance the cytotoxicity of all-trans retinoic acid and mitigate the cardiotoxic effects of arsenic trioxide. The system showed promising results in improving the antileukemic properties of all-trans retinoic acid, but it also influenced the electrocardiogram changes caused by arsenic trioxide administration.
Article
Infectious Diseases
Alassane Thiam, Samia Nisar, Mathieu Adjemout, Frederic Gallardo, Oumar Ka, Babacar Mbengue, Gora Diop, Alioune Dieye, Sandrine Marquet, Pascal Rihet
Summary: ATP2B4 gene, which has been identified as a severe malaria resistance gene, is also associated with mild malaria. Eight potential causal regulatory variants have been shown to be associated with severe malaria. The homozygous genotypes of these variants for the major alleles are associated with an increased risk of mild malaria.
Article
Cell Biology
Marie-Luce Vignais, Jennyfer Levoux, Pierre Sicard, Khattar Khattar, Catherine Lozza, Marianne Gervais, Safia Mezhoud, Jean Nakhle, Frederic Relaix, Onnik Agbulut, Jeremy Fauconnier, Anne-Marie Rodriguez
Summary: Preconditioning MSCs with cardiac mitochondria can enhance their therapeutic potential for ischemic heart disease.
Review
Microbiology
Ines Lakbar, Sharon Einav, Nathalie Lalevee, Ignacio Martin-Loeches, Bruno Pastene, Marc Leone
Summary: Sex and gender dimorphisms are observed in various diseases, including sepsis and septic shock, with a higher prevalence in men. Animal models indicate that females and males have different responses to pathogens, mainly due to sex polarization of intracellular pathways. Sex hormones play a role in this polarization, but further research is needed to investigate other factors.
Article
Cardiac & Cardiovascular Systems
Caroline Choquet, Pierre Sicard, Juliette Vahdat, Thi Hong Minh Nguyen, Frank Kober, Isabelle Varlet, Monique Bernard, Sylvain Richard, Robert G. Kelly, Nathalie Lalevee, Lucile Miquerol
Summary: The transcription factor Nkx2-5 plays a crucial role in the maturation and maintenance of a functional Purkinje fiber network in the cardiac conduction system. Deletion of Nkx2-5 in neonatal mice leads to hypoplasia and defects in the Purkinje fiber network, resulting in conduction defects and reduced cardiac function with age. These findings emphasize the importance of Nkx2-5 expression in postnatal development for the preservation of cardiac function and contraction synchrony.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Editorial Material
Biochemistry & Molecular Biology
Mathieu Adjemout, Bruno Pouvelle, Fatou Thiam, Alassane Thiam, Magali Torres, Samia Nisar, Babacar Mbengue, Alioune Dieye, Pascal Rihet, Sandrine Marquet
Article
Environmental Sciences
Sophie Sakkaki, Noemie Cresto, Raphael Chancel, Emma Zub, Pierre Sicard, Tangui Maurice, Sandrine Ellero-Simatos, Laurence Gamet-Payrastre, Nicola Marchi, Julie Perroy
Summary: This study investigates the risk of continuous exposure to glyphosate from prenatal to adulthood and the impact of Shank3 synaptic gene mutation on neurological adaptations. The results show that prenatal exposure to glyphosate increases embryonic mortality rate and leads to neuroinflammation and behavioral adaptations in progenies of Shank3(Delta C/+) mice.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Jules Cretin, Mathieu Adjemout, Christelle Dieppois, Frederic Gallardo, Magali Torres, Zachary Merard, Serge Aime Sawadogo, Christophe Picard, Pascal Rihet, Pascale Paul
Summary: This study identifies a non-coding variant, rs1771575, that regulates the expression of Fc gamma Rs and is associated with the prevalence of malarial infection in children.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Anthony Tessier, Anthony J. Ruze, Isabelle Varlet, Estelle M. H. Laib, Emilien Royer, Monique Bernard, Angele Viola, Teodora-Adriana Perles-Barbacaru
Summary: This study aims to validate a quantitative time-resolved MRI technique for mapping the kinetics of contrast agent in the brain upon intraperitoneal administration. It was a prospective study using mice as an animal model.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Chemistry, Multidisciplinary
Qilin Zou, Luan Passini, Laure Gibot, Delphine Lagarde, Jie Hu, Haomiao Zhu, Franck Desmoulin, Pierre Sicard, Nitchawat Paiyabhroma, Marc Verelst, Robert Mauricot, Clement Roux
Summary: This study presents a versatile strategy for synthesizing ultrasmall rare-earth oxysulfide (RE2O2S) nanoparticles ranging from 3 to 10 nm. The stability of PVP-coated Gd0.8Nd1.2O2S nanoparticles with a size of 6 nm in culture medium is investigated. The results demonstrate the potential of these nanoparticles for applications in various imaging techniques, including magnetic resonance, X-ray computed tomography, photoacoustic, ultrasound, and second near-infrared fluorescence imaging. This study lays the foundation for further research on the bioapplications of ultrasmall RE2O2S nanoparticles.
MATERIALS CHEMISTRY FRONTIERS
(2023)
Article
Medicine, Research & Experimental
Lamia Madaci, Charlyne Gard, Sebastien Nin, Geoffroy Venton, Pascal Rihet, Denis Puthier, Beatrice Loriod, Regis Costello
Summary: This article discusses the importance of personalized treatment for acute myeloid leukemia. The use of targeted drugs is crucial in differentiating between different types of cell targets, but cell-by-cell analysis poses challenges. The study demonstrates the applicability of the cell hashing technique for analyzing acute myeloid leukemia cells and compares it to standard single cell analysis, showing strong correlation in various parameters.